Progressive Supranuclear Palsy

Researchers are conducting the 100-Year Human Aging Study, an observational trial designed to follow participants over their lifespans to investigate which health measurements can predict mortality, serious diseases, and functional disability. The study aims to validate many longevity measures that currently lack prospective evidence by tracking physiological, cognitive, social, and environmental factors that change with aging. This research will generate important data to improve understanding of aging and longevity medicine. Participants undergo comprehensive multi-system clinical screenings including tests like cardiopulmonary exercise testing, body composition assessment by DEXA, echocardiography, electrocardiography, spirometry, neurocognitive testing, sensory assessments, metabolic testing, and detailed medical and social histories. The study allows for different levels of participation, from single tests to full two-visit screening batteries, and encourages repeat testing to capture health changes over time. During the study, participants receive individualized reports including investigational estimates of biological age and predicted cause of death. Researchers collect data on mortality, serious health events, chronic diseases, functional ability, and lifestyle changes through periodic follow-up over many years, potentially up to 100 years. This extensive data collection helps evaluate how well these measurements predict aging outcomes. All data are stored in raw form for future analysis and participants are supported with ongoing contact and opportunities for repeat assessments.

This research focuses on elderly patients hospitalized in Continuing and Rehabilitation Care Units (CRCU) who often suffer from neurodegenerative diseases and require personalized rehabilitation care. Many of these patients struggle with eating independently due to difficulty gripping standard cutlery, which may contribute to malnutrition. The study aims to evaluate the use of customized ergonomic cutlery handles designed with 3D printing technology to improve patients' autonomy during meals. Participants will receive cutlery handles with diameters tailored to their hand grip capacity, determined by a functional and joint assessment conducted by an occupational therapist. The handles come in sizes of 25, 30, 35, or 40 mm and are made from lightweight, thermoformable materials using 3D printing and computer-aided design. The study includes assessments at three lunch times: before using the adapted cutlery (Day 0), the first use of the adapted handles (Day 1), and after three days of use (Day 3) to observe learning and adaptation. During the study, the occupational therapist will assess the patient's autonomy in eating using the Katz scale and perform ecological assessments of meal interactions on Day 0 and Day 3 to observe compensatory movements. A dietician will measure the amount of food ingested at each lunch. The patient’s participation concludes after the Day 3 assessments, with outcomes focused on changes in food autonomy and upper limb compensation during eating.

Researchers are investigating the effects of deep brain stimulation (DBS) on brain function in patients with various neurological and psychiatric disorders, including Parkinson's disease, essential tremor, dystonia, depression, epilepsy, neuropathic pain, and Alzheimer's disease. This prospective cohort study aims to use advanced MRI techniques, particularly functional MRI (fMRI), to better understand how DBS influences brain circuits and to explore whether fMRI can aid clinical practice in managing DBS therapy. Participants in this study include patients who will undergo or have already undergone DBS electrode placement. The study involves performing structural MRI scans using 1.5 Tesla or 3 Tesla machines as well as resting state and task-based fMRI scans. DBS patients will be scanned while their devices are programmed at different stimulation settings, including switched off and switched on states. The fMRI results will be shared with clinicians to help guide DBS programming decisions. During the study, participants will have multiple brain scans from three months before DBS implantation to one year after. Researchers will assess brain areas activated by DBS, examine structural and functional brain connectivity through MRI, and monitor clinical outcomes. The study includes regular evaluations to observe how DBS impacts brain function over time, aiming to improve post-operative follow-up and optimize treatment for these patients.

Researchers are evaluating the use of [18F]NIDF PET imaging to visualize abnormal tau protein pathology in the brains of living humans. This technique targets tau neurofibrillary tangles, which are linked to neurodegenerative diseases such as Alzheimer's and other tauopathies. The study focuses on assessing the safety and diagnostic effectiveness of this imaging agent, which may offer advantages over existing tau PET tracers due to its stronger binding and lower off-target effects. Participants will receive a single intravenous injection of approximately 10 b1 3 mCi of [18F]NIDF. Following the injection, a PET/CT scan will be performed to capture images showing the distribution of the tracer in the brain. The study includes both healthy volunteers and patients with cognitive impairment or probable Alzheimer's disease. There is only one main study period involving this single injection and imaging session. During the study, participants will be monitored for safety from the time of injection up to seven days afterward. The primary assessments include safety evaluation and measuring how the tracer spreads in the body during the PET/CT scan on the injection day. Researchers will also evaluate the diagnostic performance of the imaging over a two-week period from enrollment to the end of imaging. Participants' involvement is limited to the injection, scanning, and follow-up safety checks.

Researchers are investigating the overall burden of tau protein in the brains of patients with Progressive Supranuclear Palsy (PSP). This study aims to better understand how tau accumulates in PSP, which is a progressive brain disorder. The research is led by the Mayo Clinic and involves patients aged 35 and older who show symptoms of PSP. Participants will undergo a Tau PET scan using a tracer called F-18 AV 1451 to image tau protein in the brain. All participants receive this scan as part of the study. The study includes a primary outcome measure focusing on the amount of tau protein detected over a 5-year period, with secondary measures tracking changes in tau burden at baseline and after one year. During the study, participants will be assessed through these imaging scans to observe tau accumulation and progression over time. Researchers will monitor participants for up to five years to evaluate tau protein levels and how they change. The study includes safety considerations such as excluding those with other neurological diseases or conditions that could affect brain imaging results.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation (DBS) for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

Researchers are studying the safety and effectiveness of a single dose of nexiguran ziclumeran (NTLA-2001) compared to a placebo in people with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). This phase 3, multinational, randomized, double-blind, placebo-controlled trial involves about 60 participants with this nerve disease and genetic condition affecting the peripheral nervous system. Participants will be randomly assigned to receive a single intravenous infusion of either nexiguran ziclumeran 55 mg or a placebo of normal saline. To give everyone a chance to receive the study drug, participants may switch to the other treatment group at either 12 or 18 months, depending on specific study criteria. The study is designed to compare the effects of the drug and placebo over time. During the study, participants will be monitored for nerve function using the Modified Neuropathy Impairment Score +7 (mNIS+7) over 18 months and blood levels of serum transthyretin at 29 days and 18 months. Quality of life, body mass index, and other health measures will also be evaluated. The study includes careful safety monitoring and will last up to 18 months with ongoing assessments to track participants' nerve health and overall well-being.

Researchers are monitoring people with advanced idiopathic Parkinson's Disease who have moderate to severe motor symptoms that do not respond well to medication. This study is an international, observational registry following patients who have undergone a unilateral pallidotomy using the Exablate Neuro device. The goal is to collect long-term information about this treatment after its approval. The treatment involves a focused ultrasound procedure called unilateral pallidotomy performed with the Exablate Model 4000 system. This registry will observe patients who have already received this procedure as part of their standard care. No additional treatment is given as part of the study. Patients will be followed with visits at 3, 6, and 12 months after the procedure, and then annually for up to 5 years. During the follow-up visits, researchers will collect information including any side effects, medication use, motor function scores, dyskinesia severity, quality of life, work productivity, and overall impressions from both doctors and patients. Safety and effectiveness will be assessed mainly by tracking responder outcomes over five years. Participants will be closely monitored throughout the study period, which may last up to five years from the time of the procedure.

Researchers are conducting a multicenter, prospective observational study to understand the natural history of Charcot-Marie-Tooth Disease, Type 4J (CMT4J), a rare neurodegenerative and neuromuscular condition confirmed by specific genetic testing. The study will enroll 20 participants of any age who have a molecularly confirmed diagnosis of CMT4J. The purpose is to collect detailed health information and disease progression data over time, without providing any investigational treatments. Participants will follow a uniform protocol with visits scheduled every 12 months plus a 4-week window, for up to 2 years. At each visit, researchers will collect demographic and medical history data, perform physical and neurological exams, standard lab tests, and use several disease outcome measures. Additional assessments may include neuropsychological tests, nerve conduction studies, muscle MRI, pulmonary function tests, and scoliosis x-rays. Early termination visits are planned if participants leave before completing the study. Throughout the study, participants will undergo thorough evaluations to monitor their condition and collect data relevant to CMT4J progression. This includes clinical exams, imaging, lab tests, and questionnaires. Researchers will use this information to study disease patterns and outcomes over the 2-year follow-up period. No investigational products are administered, and visits may be unscheduled if necessary with approval. Participants are expected to comply with study procedures and travel requirements.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.